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CHEK2 gene mutation
Clinical significance:
- CHEK2 gene c.470C>T & 1100delC
- defects in CHEK2 are associated with Li-Fraumeni syndrome 2
- defects in CHEK2 are found in some patients with:
a) prostate cancer
b) osteosarcoma
Related
checkpoint kinase 2; serine/threonine protein kinase Chk2; homolog of S. cerevisiae Rad53; Cds1 (CHEK2, CHK2, RAD53)
Specific
CHEK2 gene deletion+duplication+mutation analysis
General
gene mutation testing; gene mutation analysis
References
Loinc